ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)

gnomAD frequency: 0.00019  dbSNP: rs144882998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000224176 SCV000241391 benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224176 SCV000281594 likely benign not provided 2015-12-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001080049 SCV000645065 benign Koolen-de Vries syndrome 2021-08-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224176 SCV001799305 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000224176 SCV001963382 likely benign not provided no assertion criteria provided clinical testing

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